Varaico: Literature-Extracted Genetic Variants

Gene:CPNE1
Variant:p.V31insFs

CPNE1

45 papers

RefSeq Summary

Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a calcium-dependent protein that also contains two N-te...

Pfam Domains

C2aa 6–116UCSCC2 domain
C2aa 137–254UCSCC2 domain
Copineaa 304–521UCSCCopine

Gene Aliases

HGNC Name

copine 1

HGNC Previous Name

copine I

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152925.3
p.V31insFs
c.92dupT
Surrounding Variants
1 paper
NM_152925.3
p.V31I
c.91G>A
1 paper
NM_152925.3
p.V36M
c.106G>A
1 paper
NM_152925.3
p.D27N
c.79G>A
1 paper
NM_152925.3
p.S13F
c.38C>T
1 paper
NM_152925.3
p.L62R
c.185T>G
1 paper
NM_152925.3
p.L74L
c.220C>T
1 paper
NM_152925.3
p.R75H
c.224G>A
1 paper
NM_152925.3
p.I81V
c.241A>G
1 paper
NM_152925.3
p.D91N
c.271G>A
1 paper
NM_152925.3
p.D92N
c.274G>A
1 paper
NM_152925.3
p.L94L
c.282A>G
1 paper
NM_152925.3
p.G96V
c.287G>T
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